Article
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.
Clinical genetics - 1 Jul 2021
Chen Anhai, Song Jian, Acke Frederic R E, Mei Lingyun, Cai Xinzhang, Feng Yong, He Chufeng
Abstract excerpt
Branchiootorenal spectrum disorder (BORSD) is a group of rare autosomal dominant entities characterized by branchiogenic malformations, hearing loss (HL) and renal anomalies. It comprises branchiootorenal syndrome and branchiootic syndrome, distinguished by the presence or absence of renal abnormalities. Pathogenic variants have been discovered in the following genes: EYA1, SIX5, SIX1 and SALL1. As the otological...
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